Variant position: 82 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 335 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human PCPPGERKARDCTVNGDEPD CVPCQEGKEYTDKAHFSSKCR
Rhesus macaque PCPPGERKARDCTVNEDEPD CVPCQEGEEYTDKGHFSSKCR
Mouse PCQPGKKKVEDCKMNGGTPT CAPCTEGKEYMDKNHYADKCR
Rat PCQPGERKVKDCTTSGGAPT CHPCTEGEEYTDRKHYSDKCR
Pig PCPPGKRKHADCTSPGGAPQ CVPCSEGEDYTDKNHHSSKCR
Bovine PCPPGKRKNGDCKRDGDTPE CVLCSEGNEYTDKSHHSDKCI
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
26 – 335 Tumor necrosis factor receptor superfamily member 6
26 – 173 Extracellular
47 – 83 TNFR-Cys 1
63 – 82
66 – 103 GERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRR -> DVNMESSRNAHSPATPSAKRKDPDLTWGGFVFFFCQFH. In isoform 2.
66 – 86 GERKARDCTVNGDEPDCVPCQ -> DVNMESSRNAHSPATPSAKRK. In isoform 3.
82 – 84
The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.
Vaishnaw A.K.; Orlinick J.R.; Chu J.-L.; Krammer P.H.; Chao M.V.; Elkon K.B.;
J. Clin. Invest. 103:355-363(1999)
Cited for: VARIANTS ALPS1A ARG-82; PRO-250; GLY-260 AND ILE-270;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.